rs1085307137, PUF60

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital pectus excavatum
CUI: C0016842
Disease: Congenital pectus excavatum
36 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 0.700 0